Pyruvate dehydrogenase E3-binding protein deficiency
ORPHA:255182Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)23
Очень частый (80–99%)3
HP:0002151Increased circulating lactate concentration
HP:0002490Increased CSF lactate
HP:0500231Abnormal CSF pyruvate family amino acid concentration
Частый (30–79%)7
HP:0001250Seizure
HP:0001264Spastic diplegia
HP:0001273Abnormal corpus callosum morphology
HP:0002273Tetraparesis
HP:0002928Decreased activity of the pyruvate dehydrogenase complex
HP:0003128Lactic acidosis
HP:0010915Abnormal circulating pyruvate family amino acid concentration
Периодический (5–29%)10
HP:0000252Microcephaly
HP:0001263Global developmental delay
HP:0001274Agenesis of corpus callosum
HP:0001508Failure to thrive
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002134Abnormality of the basal ganglia
HP:0007109Periventricular cysts
HP:0008936Axial hypotonia
HP:0010864Intellectual disability, severe
Очень редкий (1–4%)3
HP:0001317Abnormal cerebellum morphology
HP:0002059Cerebral atrophy
HP:0002363Abnormal brainstem morphology
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)